| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390375, LOC129390376 +764 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130006854, LOC130006855 +499 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007028, LOC130007029 +608 more | Duplication | Schizophrenia | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Noonan-like syndrome | |
| | | Insertion | Noonan-like syndrome +1 more | |
| | | Insertion | Noonan-like syndrome | |
| | | Microsatellite | Noonan-like syndrome | |
| | | Microsatellite | Noonan-like syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | Noonan-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | Noonan-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | not provided | |
| | | Insertion | Noonan-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | Noonan-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +1 more | |
| | | Indel | Juvenile myelomonocytic leukemia +2 more | |
| | | Single nucleotide variant | CBL-related disorder | |
| | | Single nucleotide variant | CBL-related disorder +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | CBL-related disorder | |
| | | Single nucleotide variant | CBL-related disorder | |
| | | Insertion | CBL-related condition | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | CBL-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | CBL-related disorder | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | CBL-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | CBL-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Noonan syndrome and Noonan-related syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | CBL-related disorder +1 more | |
| | | Indel (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Noonan syndrome and Noonan-related syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | CBL-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_insertion) | RASopathy | |
| | | Microsatellite (inframe_insertion) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Noonan syndrome and Noonan-related syndrome +8 more | |
| | | Microsatellite (inframe_deletion) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Microsatellite (inframe_deletion) | not specified +1 more | |
| | CBL, LOC130006895 (H42del) | Microsatellite (inframe_deletion) | Juvenile myelomonocytic leukemia +2 more | |
| | | Single nucleotide variant (synonymous variant) | RASopathy +1 more | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (inframe_insertion) | RASopathy | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RASopathy +1 more | |